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Human mutation

Showing results (1661-1670 of 5,734) with videos related to

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Human Mutation|December 28, 2021
Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotypeSimon Lebaron, Marie-Françoise O'Donohue, Scott C Smith, et al.
Human Mutation|March 14, 2021
Implementation of multigene panel NGS diagnosis in the national primary ciliary dyskinesia cohort of Cyprus: An island with a high disease prevalencePanayiotis K Yiallouros, Panayiotis Kouis, Kyriacos Kyriacou, et al.
Human Mutation|November 1, 2022
A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delayHongzheng Dai, Wenmiao Zhu, Bo Yuan, et al.
Human Mutation|October 27, 2022
VariantAlert: A web-based tool to notify updates in genetic variant annotationsRossano Atzeni, Matteo Massidda, Giorgio Fotia, et al.
Human Mutation|October 23, 2022
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicingRaphaël Leman, Béatrice Parfait, Dominique Vidaud, et al.
Human Mutation|October 11, 2022
Revealing the functions of clonal driver gene mutations in patients based on evolutionary dependenciesYujia Lan, Wei Liu, Xiaobo Hou, et al.
Human Mutation|September 1, 2022
A survey of current methods to detect and genotype inversionsVincent C T Hanlon, Peter M Lansdorp, Victor Guryev
Human Mutation|September 1, 2022
Phasing of de novo mutations using a scaled-up multiple amplicon long-read sequencing approachGiles S Holt, Lois E Batty, Bilal K S Alobaidi, et al.
Human Mutation|March 6, 2021
Comprehensive characterization of Alu-mediated breakpoints in germline VHL gene deletions and rearrangements in patients from 71 VHL familiesCathy D Vocke, Christopher J Ricketts, Laura S Schmidt, et al.
Human Mutation|September 30, 2022
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patientsMohamed H Al-Hamed, Maged H Hussein, Yaser Shah, et al.
Pageof 574

Showing results (1661-1670 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|December 28, 2021
Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotypeSimon Lebaron, Marie-Françoise O'Donohue, Scott C Smith, et al.
Human Mutation|March 14, 2021
Implementation of multigene panel NGS diagnosis in the national primary ciliary dyskinesia cohort of Cyprus: An island with a high disease prevalencePanayiotis K Yiallouros, Panayiotis Kouis, Kyriacos Kyriacou, et al.
Human Mutation|November 1, 2022
A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delayHongzheng Dai, Wenmiao Zhu, Bo Yuan, et al.
Human Mutation|October 27, 2022
VariantAlert: A web-based tool to notify updates in genetic variant annotationsRossano Atzeni, Matteo Massidda, Giorgio Fotia, et al.
Human Mutation|October 23, 2022
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicingRaphaël Leman, Béatrice Parfait, Dominique Vidaud, et al.
Human Mutation|October 11, 2022
Revealing the functions of clonal driver gene mutations in patients based on evolutionary dependenciesYujia Lan, Wei Liu, Xiaobo Hou, et al.
Human Mutation|September 1, 2022
A survey of current methods to detect and genotype inversionsVincent C T Hanlon, Peter M Lansdorp, Victor Guryev
Human Mutation|September 1, 2022
Phasing of de novo mutations using a scaled-up multiple amplicon long-read sequencing approachGiles S Holt, Lois E Batty, Bilal K S Alobaidi, et al.
Human Mutation|March 6, 2021
Comprehensive characterization of Alu-mediated breakpoints in germline VHL gene deletions and rearrangements in patients from 71 VHL familiesCathy D Vocke, Christopher J Ricketts, Laura S Schmidt, et al.
Human Mutation|September 30, 2022
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patientsMohamed H Al-Hamed, Maged H Hussein, Yaser Shah, et al.
Pageof 574